Canonical Allele Identifier: CA10591117

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868187
• ClinVar RCV Id: RCV001077033
• dbSNP Id: rs2051524645
• MyVariant Identifiers: chr17:g.41209136C>A (hg19) ; chr17:g.43057119C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057119C>A , CM000679.2:g.43057119C>A	GRCh38
NC_000017.10:g.41209136C>A , CM000679.1:g.41209136C>A	GRCh37
NC_000017.9:g.38462662C>A	NCBI36
NG_005905.2:g.160865G>T , LRG_292:g.160865G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5207G>T	ENSP00000417241.2:p.Arg1736Ile
ENST00000470026.6:c.5210G>T	ENSP00000419274.2:p.Arg1737Ile
ENST00000473961.6:c.5084G>T	ENSP00000420201.2:p.Arg1695Ile
ENST00000476777.6:c.5204G>T	ENSP00000417554.2:p.Arg1735Ile
ENST00000477152.6:c.5132G>T	ENSP00000419988.2:p.Arg1711Ile
ENST00000478531.6:c.1898G>T	ENSP00000420412.2:p.Arg633Ile
ENST00000489037.2:c.5132G>T	ENSP00000420781.2:p.Arg1711Ile
ENST00000493919.6:c.1760G>T	ENSP00000418819.2:p.Arg587Ile
ENST00000494123.6:c.5210G>T	ENSP00000419103.2:p.Arg1737Ile
ENST00000497488.2:c.4322G>T	ENSP00000418986.2:p.Arg1441Ile
ENST00000618469.2:c.5210G>T	ENSP00000478114.2:p.Arg1737Ile
ENST00000634433.2:c.5087G>T	ENSP00000489431.2:p.Arg1696Ile
ENST00000644379.2:c.5276G>T	ENSP00000496570.2:p.Arg1759Ile
ENST00000644555.2:c.1760G>T	ENSP00000494614.2:p.Arg587Ile
ENST00000652672.2:c.5069G>T	ENSP00000498906.2:p.Arg1690Ile
ENST00000484087.6:c.1772G>T	ENSP00000419481.2:p.Arg591Ile
ENST00000357654.9:c.5210G>T MANE Select	ENSP00000350283.3:p.Arg1737Ile
ENST00000471181.7:c.5273G>T	ENSP00000418960.2:p.Arg1758Ile
ENST00000644379.1:c.1597G>T
ENST00000352993.7:c.1784G>T	ENSP00000312236.5:p.Arg595Ile
ENST00000357654.7:c.5210G>T	ENSP00000350283.3:p.Arg1737Ile
ENST00000461221.5:c.*4993G>T	ENSP00000418548.1:n.*4993G>T
ENST00000468300.5:c.1898G>T	ENSP00000417148.1:p.Arg633Ile
ENST00000471181.6:c.5273G>T	ENSP00000418960.2:p.Arg1758Ile
ENST00000491747.6:c.1898G>T	ENSP00000420705.2:p.Arg633Ile
ENST00000493795.5:c.5069G>T	ENSP00000418775.1:p.Arg1690Ile
ENST00000586385.5:c.140G>T	ENSP00000465818.1:p.Arg47Ile
ENST00000591534.5:c.683G>T	ENSP00000467329.1:p.Arg228Ile
ENST00000591849.5:c.-98-6929G>T	ENSP00000465347.1:n.-98-6929G>T
NM_007294.3:c.5210G>T , LRG_292t1:c.5210G>T	NP_009225.1:p.Arg1737Ile
NM_007297.3:c.5069G>T	NP_009228.2:p.Arg1690Ile
NM_007298.3:c.1898G>T	NP_009229.2:p.Arg633Ile
NM_007299.3:c.1898G>T	NP_009230.2:p.Arg633Ile
NM_007300.3:c.5273G>T	NP_009231.2:p.Arg1758Ile
NR_027676.1:n.5346G>T
NM_007294.4:c.5210G>T MANE Select	NP_009225.1:p.Arg1737Ile
NM_007297.4:c.5069G>T	NP_009228.2:p.Arg1690Ile
NM_007299.4:c.1898G>T	NP_009230.2:p.Arg633Ile
NM_007300.4:c.5273G>T	NP_009231.2:p.Arg1758Ile
NR_027676.2:n.5387G>T